Canonical Allele Identifier: CA341290977
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866879
ClinVar RCV Id: RCV001075236 RCV001386130
dbSNP Id: rs1660480045
gnomAD v4: 1-94041324-C-T
MyVariant Identifiers: chr1:g.94506880C>T (hg19) chr1:g.94041324C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041324C>T , CM000663.2:g.94041324C>T GRCh38
NC_000001.10:g.94506880C>T , CM000663.1:g.94506880C>T GRCh37
NC_000001.9:g.94279468C>T NCBI36
NG_009073.1:g.84826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3407G>A MANE Select ENSP00000359245.3:p.Gly1136Glu
ENST00000370225.3:c.3407G>A ENSP00000359245.3:p.Gly1136Glu
ENST00000536513.5:c.-64-1235G>A ENSP00000439707.2:n.-64-1235G>A
NM_000350.2:c.3407G>A NP_000341.2:p.Gly1136Glu
NM_000350.3:c.3407G>A MANE Select NP_000341.2:p.Gly1136Glu
Search 100 bp 5'
Search 100 bp 3'